Cardiac Considerations and Care in Children with Neuromuscular Disorders
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1 Cardiac Considerations and Care in Children with Neuromuscular Disorders - importance of early and ongoing treatment, management and available able medications. Dr Bo Remenyi Department of Cardiology The Royal Children s s Hospital
2 Primary Myopathies with Cardiac involvement Duchenne Muscular Dystrophy Becker Muscular Dystrophy Emery-Dreifuss Dreifuss Muscular Dystrophy Facioscapulohumeral Dystrophy Limb-Girdle Girdle Muscular Dystrophy 2C, 2D, 2E and 2F Myotonic Muscular Dystrophy Metabolic Myopathies Glycogenosis II, III, IV, VII and IX Mitochondrial Myopathies Carnitine Deficiency Lysosomal Glycogen Storage Disorders Congenital Myopathies Desmine Myopathy Nemaline Myopathy Central core Disease Others Barth Disease, Bethlem Myopathy
3 Management of Children with Neuromuscular Disorders Physiotherapy Occupational Therapy Speech Therapy Orthotics and Orthpaedic Surgery Respiratory Medicine Genetics Cardiology
4 Normal Cardiac Anatomy
5 Normal Cardiac Anatomy
6 Normal Conduction Pathway
7 Cardiac Complication of Childhood Myopathies Disease of the myocardium Leading to pump failure Cardiomyopathy Valvar disease Leading to stenosis or regurgitation Disorder of electrical conduction Slow or fast heart rhythms Arrhythmias
8 Cardiomyopathy Dilated cardiomyopathy Decreased contractile function Dilatation of all four chambers Walls are not thickened Hypertrophic cardiomyopathy Gross thickening of the ventricle Small ventricular cavity Preserved contractility Restrictive cardiomyopathy Impaired relaxation / diastolic function Dilated atria
9 Cardiac Arrhythmias / Conduction Disorders Long QT Syndrome Limb-Girdle Muscle Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy
10 Slow Heart Rates Sinus Bradycardia First Degree Heart Block Second Degree Heart Block Escape Rhythm Junctional Escape Ventricular Escape Third Degree Heart Block
11 Fast Heart Rates Atrial Fibrilation / Atrial Flutter Supra-Ventricular Tachycardias Ventricular Tachycardias
12 Duchenne Muscular Dystophy Most common and severe form of childhood muscular dystrophy Inherited X-linked X linked disease Typically diagnosed between 3 and 7 years of age Characterised by progressive muscle weakness and loss of ambulation by 12 years of age Death occurs in early adulthood secondary to respiratory and cardiac failure Incidence of Dilated Cardiomyopathy 30% of patients by age 14 50% of patients by age 18 Cardiac conduction problems Less common
13 Becker Muscular Dystrophy A milder form of Duchenne Muscular Dystrophy Dystrophin protein is reduced in quantity or abnormal in size Onset of muscle weakness Adolescence / Early adulthood Cardiomyopathy Common Out of proportion with skeletal involvement Onset of cardiomyopathy can precede the onset of muscle weakness 70% of patients by age 40
14 Emery-Dreifuss Muscular Dystrophy Slow progressive muscle wasting with humero-peroneal distribution X-linked form Long term prognosis is entirely dependent on cardiac status Cardiac Conduction defects Slow heart rate Heart block Atrial flutter Complete atrial paralysis Conduction defects Rare in first decade of life Almost invariable by age 30 Pacemaker insertion is justified even in asymptomatic patients Autosomal dominant Progression of muscle weakness more rapid Cardiac conduction defects Life threatening ventricular dysrythmias Sudden cardiac death Cardiomyopathy
15 Myotonic Muscular Dystrophy Autosomal dominant multi-system disorder Cardiac involvement - Common Cardiac conduction problems Ventricular arrhythmias leading to sudden death / Long QT Coronary artery dysfunction Cardiomyopathy - hypertrophic
16 Limb-Girdle Muscular Dystrophy AD /AR forms Caused by a deficiency of a dystrophin related protein SARCOGLYCANS Clinical progression is similar to Duchenne Muscular Dystrophy Cardiac involvement is present in some forms but not others Overall incidence of cardiomyopathy 30-40%
17 Referral to Cardiologist Who can refer? Any medical practitioner. Who should be referred? Any one with proven or suspected neuromuscular disease. When should patients be referred? At time of diagnosis Waiting list for outpatient clinics.
18 Signs and Symptoms Cardiomyopathy Shortness of breath Decreased exercise tolerance Fatigue Weight loss Loss of appetite Difficulty in keeping up with peers Fast resting heart rate SUDDEN DEATH Conduction problems Slow heart rate Fast heart rate Palpitations Chest pain Decreased exercise tolerance Collapse SUDDEN DEATH
19 Investigations ECG ECHO 24 hour Holter Monitor Recording Distant Heart Monitoring / Loop Recording Exercise Stress Test Others: Electrophysiological Studies Cardiac MRI
20 ECHO Cardiac Ultrasound Scan Exclude congenital heart disease Assess valvar function Assess cardiac chamber size and wall thickness Assess cardiac function Assess ventricular synchrony
21
22
23
24 ECHO of Hypertrophic Cardiomyopahty
25 Cardiac Synchrony Assessment
26
27 ECG Recording over 10 seconds Confirms patient s s rhythm Does not exclude arrhythmias
28 Holter / Distant Cardiac Monitoring
29 Aim of Management 1. Slow progression of cardiomyopathy 2. Symptomatic relief 3. To prevent sudden or premature death
30 Medical management of cardiomyopathy / heart failure Ace Inhibitors Beta-blockers Diuretics
31 Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy John L. Jefferies, MD, MPH; (Circulation. 2005;112: ) 2804.) 69 patients with DMD and BMD were flowed 31 of the patients developed cardiomyopathy at the mean age of 151 After the first abnormal ECHO ACE inhibitors +/- b-blockers blockers were commenced 2 patients showed stable function, 8 improved function and 19 normalised function Therefore 93% of patients had improved function Genetics Some mutations protective others strongly linked to cardiomyopathy
32 Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years follow-up Denis Duboc, MD, PhD, (Am Heart J 2007;154: ) French study The effect of treatment on survival seems to have begun at 7 years At 10 years 93% of the patients were alive in group 1 early treatment group 65.5% of patients alive in group 2 late treatment group
33 Side effect of medications Hypotension Electrolyte disturbance Excessive slowing of heart rate
34 Non-Pharmacological Treatment of Heart Failure Pacemaker therapy cardiac resynchronization Bridging to transplantation Cardiac transplantation
35 Treatment of rhythm problems Slow Fast Conservative Pacemaker Insertion Medications Defibrillation Ablation Amiodarone Portable Digoxin Implantable Sotalol Fleccanide
36 Pacemakers and Implantable Defibrillators
37 Pacemakers and Implantable Defibrillators
38 Follow up Annual Cardiology visits More frequent if problems identified This stage we do not have the ability to predict who is going to develop cardiac complications
39 Cardiac Care in Carriers of Duchenne and Becker Muscular Dystrophy Do not develop skeletal muscle weakness Can develop cardiomyopathy Should be referred to a cardiologist Require complete cardiac evaluation every 5 years
40 Summary 1. Cardiac involvement is common 2. We are still unable to predict who will develop cardiac problems 3. Signs and symptoms of heart failure can be difficult to recognise 4. Early diagnosis and treatment can - Improve heart function - Improve quality of life - Prevent unexpected sudden death
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